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Aliases for PRPF8 Gene

Aliases for PRPF8 Gene

  • Pre-MRNA Processing Factor 8 2 3 5
  • 220 KDa U5 SnRNP-Specific Protein 3 4
  • Splicing Factor Prp8 3 4
  • PRP8 Homolog 3 4
  • PRPC8 3 4
  • P220 3 4
  • U5 SnRNP-Specific Protein (220 KD), Ortholog Of S. Cerevisiae Prp8p 3
  • PRP8 Pre-MRNA Processing Factor 8 Homolog (S. Cerevisiae) 2
  • PRP8 Pre-MRNA Processing Factor 8 Homolog (Yeast) 2
  • PRP8 Pre-MRNA Processing Factor 8 Homolog 3
  • Pre-MRNA-Processing-Splicing Factor 8 3
  • Precursor MRNA Processing Protein 3
  • Apoptosis-Regulated Protein 1 3
  • Apoptosis-Regulated Protein 2 3
  • SNRNP220 3
  • HPRP8 3
  • PRP8 3
  • RP13 3

External Ids for PRPF8 Gene

Previous HGNC Symbols for PRPF8 Gene

  • RP13

Previous GeneCards Identifiers for PRPF8 Gene

  • GC17P001666
  • GC17M001889
  • GC17M001480
  • GC17M001760
  • GC17M001502
  • GC17M001503
  • GC17M001553
  • GC17M001453

Summaries for PRPF8 Gene

Entrez Gene Summary for PRPF8 Gene

  • Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq, Jul 2008]

GeneCards Summary for PRPF8 Gene

PRPF8 (Pre-MRNA Processing Factor 8) is a Protein Coding gene. Diseases associated with PRPF8 include Retinitis Pigmentosa 13 and Prpf8-Related Retinitis Pigmentosa. Among its related pathways are mRNA Splicing - Major Pathway and mRNA Splicing - Minor Pathway. GO annotations related to this gene include poly(A) RNA binding and protein heterodimerization activity.

UniProtKB/Swiss-Prot for PRPF8 Gene

  • Functions as a scaffold that mediates the ordered assembly of spliceosomal proteins and snRNAs. Required for the assembly of the U4/U6-U5 tri-snRNP complex. Functions as scaffold that positions spliceosomal U2, U5 and U6 snRNAs at splice sites on pre-mRNA substrates, so that splicing can occur. Interacts with both the 5 and the 3 splice site.

Gene Wiki entry for PRPF8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRPF8 Gene

Genomics for PRPF8 Gene

Regulatory Elements for PRPF8 Gene


Promoters for PRPF8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001338852 182 1801 HDGF PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for PRPF8 Gene

Chromosome:
17
Start:
1,650,629 bp from pter
End:
1,684,882 bp from pter
Size:
34,254 bases
Orientation:
Minus strand

Genomic View for PRPF8 Gene

Genes around PRPF8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRPF8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRPF8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRPF8 Gene

Proteins for PRPF8 Gene

  • Protein details for PRPF8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P2Q9-PRP8_HUMAN
    Recommended name:
    Pre-mRNA-processing-splicing factor 8
    Protein Accession:
    Q6P2Q9
    Secondary Accessions:
    • O14547
    • O75965

    Protein attributes for PRPF8 Gene

    Size:
    2335 amino acids
    Molecular mass:
    273600 Da
    Quaternary structure:
    • Part of the U5 snRNP complex. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39. Component of the U5.U4atac/U6atac snRNP complexes in U12-dependent spliceosomes. Found in a mRNA splicing-dependent exon junction complex (EJC) with SRRM1. Interacts with U5 snRNP proteins SNRP116 and SNRNP40. Interacts with EFTUD2 and SNRNP200. Interacts (via the MPN (JAB/Mov34) domain) with PRPF3 (Lys-63-linked polyubiquitinated); may stabilize the U4/U6-U5 tri-snRNP complex.

    Three dimensional structures from OCA and Proteopedia for PRPF8 Gene

neXtProt entry for PRPF8 Gene

Post-translational modifications for PRPF8 Gene

  • Ubiquitination at Lys 36, Lys 43, Lys 93, Lys 218, Lys 267, Lys 278, Lys 301, Lys 428, Lys 442, Lys 452, Lys 460, Lys 480, Lys 525, Lys 609, Lys 702, Lys 727, Lys 746, Lys 785, Lys 932, Lys 1020, Lys 1158, Lys 1210, Lys 1222, Lys 1300, Lys 1344, Lys 1392, Lys 1434, Lys 1443, Lys 1449, Lys 1463, Lys 1732, Lys 1735, Lys 1792, Lys 1801, Lys 1859, Lys 1866, Lys 1901, Lys 2034, Lys 2049, Lys 2070, and Lys 2140
  • Modification sites at PhosphoSitePlus

Other Protein References for PRPF8 Gene

Antibody Products

  • Abcam antibodies for PRPF8

No data available for DME Specific Peptides for PRPF8 Gene

Domains & Families for PRPF8 Gene

Suggested Antigen Peptide Sequences for PRPF8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6P2Q9

UniProtKB/Swiss-Prot:

PRP8_HUMAN :
  • The MPN (JAB/Mov34) domain has structural similarity with deubiquitinating enzymes, but lacks the residues that would bind the catalytic metal ion.
Domain:
  • The MPN (JAB/Mov34) domain has structural similarity with deubiquitinating enzymes, but lacks the residues that would bind the catalytic metal ion.
  • Contains a region with structural similarity to reverse transcripase, presenting the classical thumb, fingers and palm architecture, but lacks enzyme activity, since the essential metal-binding residues are not conserved.
  • Contains a region with structural similarity to type-2 restriction endonucleases, but the residues that would bind catalytic metal ions in endonucleases are instead involved in hydrogen bonds that stabilize the protein structure.
  • Contains a region with structural similarity to RNase H, but lacks RNase H activity.
  • Contains 1 MPN (JAB/Mov34) domain.
genes like me logo Genes that share domains with PRPF8: view

No data available for Gene Families for PRPF8 Gene

Function for PRPF8 Gene

Molecular function for PRPF8 Gene

UniProtKB/Swiss-Prot Function:
Functions as a scaffold that mediates the ordered assembly of spliceosomal proteins and snRNAs. Required for the assembly of the U4/U6-U5 tri-snRNP complex. Functions as scaffold that positions spliceosomal U2, U5 and U6 snRNAs at splice sites on pre-mRNA substrates, so that splicing can occur. Interacts with both the 5 and the 3 splice site.

Gene Ontology (GO) - Molecular Function for PRPF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000386 second spliceosomal transesterification activity IBA --
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 9774689
GO:0017070 U6 snRNA binding IEA,IBA --
genes like me logo Genes that share ontologies with PRPF8: view
genes like me logo Genes that share phenotypes with PRPF8: view

Human Phenotype Ontology for PRPF8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PRPF8 Gene

Localization for PRPF8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRPF8 Gene

Nucleus speckle.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PRPF8 Gene COMPARTMENTS Subcellular localization image for PRPF8 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
golgi apparatus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PRPF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 22720776
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
GO:0005682 U5 snRNP TAS 9774689
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with PRPF8: view

Pathways & Interactions for PRPF8 Gene

genes like me logo Genes that share pathways with PRPF8: view

Pathways by source for PRPF8 Gene

1 KEGG pathway for PRPF8 Gene

Gene Ontology (GO) - Biological Process for PRPF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000244 spliceosomal tri-snRNP complex assembly IDA 20595234
GO:0000375 RNA splicing, via transesterification reactions TAS 9774689
GO:0000398 mRNA splicing, via spliceosome IEA,TAS --
GO:0006397 mRNA processing TAS 9774689
GO:0008380 RNA splicing TAS 9774689
genes like me logo Genes that share ontologies with PRPF8: view

No data available for SIGNOR curated interactions for PRPF8 Gene

Drugs & Compounds for PRPF8 Gene

(2) Drugs for PRPF8 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for PRPF8 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PRPF8: view

Transcripts for PRPF8 Gene

Unigene Clusters for PRPF8 Gene

PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRPF8 Gene

No ASD Table

Relevant External Links for PRPF8 Gene

GeneLoc Exon Structure for
PRPF8
ECgene alternative splicing isoforms for
PRPF8

Expression for PRPF8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PRPF8 Gene

Protein differential expression in normal tissues from HIPED for PRPF8 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (13.2) and Retina (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PRPF8 Gene



Protein tissue co-expression partners for PRPF8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PRPF8 Gene:

PRPF8

SOURCE GeneReport for Unigene cluster for PRPF8 Gene:

Hs.181368

mRNA Expression by UniProt/SwissProt for PRPF8 Gene:

Q6P2Q9-PRP8_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with PRPF8: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PRPF8 Gene

Orthologs for PRPF8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PRPF8 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia PRPF8 35
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRPF8 35
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PRPF8 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PRPF8 34 35
  • 92.58 (n)
dog
(Canis familiaris)
Mammalia PRPF8 34 35
  • 92.51 (n)
rat
(Rattus norvegicus)
Mammalia Prpf8 34
  • 90.96 (n)
mouse
(Mus musculus)
Mammalia Prpf8 34 16 35
  • 90.71 (n)
chicken
(Gallus gallus)
Aves PRPF8 34 35
  • 83.01 (n)
lizard
(Anolis carolinensis)
Reptilia PRPF8 35
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prpf8 34
  • 80.43 (n)
Str.10952 34
African clawed frog
(Xenopus laevis)
Amphibia prp-8-prov 34
zebrafish
(Danio rerio)
Actinopterygii prpf8 34 35
  • 82.13 (n)
zgc56504 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9025 34
fruit fly
(Drosophila melanogaster)
Insecta CG8877 36
  • 94 (a)
Prp8 34 35
  • 76.37 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006885 34
  • 77.04 (n)
worm
(Caenorhabditis elegans)
Secernentea prp-8 34 35
  • 71.44 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR207W 34
  • 60.01 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP8 34 35 37
  • 59.48 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A05280g 34
  • 59.21 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons SUS2 34
  • 71.34 (n)
soybean
(Glycine max)
eudicotyledons Gma.11337 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3247 34
rice
(Oryza sativa)
Liliopsida Os06g0167000 34
  • 73.13 (n)
Os.4209 34
barley
(Hordeum vulgare)
Liliopsida Hv.3031 34
wheat
(Triticum aestivum)
Liliopsida Ta.5935 34
corn
(Zea mays)
Liliopsida Zm.6553 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2876 35
  • 86 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU07832 34
  • 67.41 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes spp42 34
  • 64.58 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4625 34
Species where no ortholog for PRPF8 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PRPF8 Gene

ENSEMBL:
Gene Tree for PRPF8 (if available)
TreeFam:
Gene Tree for PRPF8 (if available)

Paralogs for PRPF8 Gene

No data available for Paralogs for PRPF8 Gene

Variants for PRPF8 Gene

Sequence variations from dbSNP and Humsavar for PRPF8 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs121434236 Retinitis pigmentosa 13 (RP13) [MIM:600059], Retinitis pigmentosa 13 (RP13) [MIM:600059], Pathogenic 1,650,884(-) GGTGC(A/C/G)CAGGC upstream-variant-2KB, reference, missense
rs121434238 Retinitis pigmentosa 13 (RP13) [MIM:600059], Pathogenic 1,650,881(-) GCACA(A/G)GCCCT upstream-variant-2KB, reference, missense
rs121434239 Retinitis pigmentosa 13 (RP13) [MIM:600059], Pathogenic 1,650,909(-) CGAAC(A/C)CCAAA upstream-variant-2KB, reference, missense
rs121434240 Retinitis pigmentosa 13 (RP13) [MIM:600059], Pathogenic 1,650,898(-) GAGTT(C/G/T)TACCA upstream-variant-2KB, reference, synonymous-codon, missense
VAR_022630 Retinitis pigmentosa 13 (RP13) [MIM:600059]

Structural Variations from Database of Genomic Variants (DGV) for PRPF8 Gene

Variant ID Type Subtype PubMed ID
esv29703 CNV loss 19812545
nsv1059565 CNV gain 25217958
nsv574211 CNV gain 21841781
nsv827856 CNV gain 20364138
nsv9490 CNV loss 18304495

Variation tolerance for PRPF8 Gene

Residual Variation Intolerance Score: 0.102% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.76; 16.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRPF8 Gene

Human Gene Mutation Database (HGMD)
PRPF8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRPF8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRPF8 Gene

Disorders for PRPF8 Gene

MalaCards: The human disease database

(6) MalaCards diseases for PRPF8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 13
  • rp13
prpf8-related retinitis pigmentosa
  • retinitis pigmentosa 13
retinitis pigmentosa
  • retinitis pigmentosa 1
miller-dieker lissencephaly syndrome
  • mds
hereditary choroidal atrophy
  • hereditary choroidal dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search PRPF8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PRP8_HUMAN
  • Retinitis pigmentosa 13 (RP13) [MIM:600059]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:11468273, ECO:0000269 PubMed:11910553, ECO:0000269 PubMed:12714658, ECO:0000269 Ref.35}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PRPF8

Genetic Association Database (GAD)
PRPF8
Human Genome Epidemiology (HuGE) Navigator
PRPF8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRPF8
genes like me logo Genes that share disorders with PRPF8: view

No data available for Genatlas for PRPF8 Gene

Publications for PRPF8 Gene

  1. Structure and function of an RNase H domain at the heart of the spliceosome. (PMID: 18843295) Pena V. … Wahl M.C. (EMBO J. 2008) 3 4 22 64
  2. Structure of a multipartite protein-protein interaction domain in splicing factor Prp8 and its link to retinitis pigmentosa. (PMID: 17317632) Pena V. … Wahl M.C. (Mol. Cell 2007) 3 4 22 64
  3. Prp8 protein: at the heart of the spliceosome. (PMID: 15840809) Grainger R.J. … Beggs J.D. (RNA 2005) 3 4 22 64
  4. Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. (PMID: 12714658) Martinez-Gimeno M. … Carballo M. (Invest. Ophthalmol. Vis. Sci. 2003) 3 4 22 64
  5. Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). (PMID: 11468273) McKie A.B. … Inglehearn C.F. (Hum. Mol. Genet. 2001) 2 3 4 64

Products for PRPF8 Gene

Sources for PRPF8 Gene

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